GABRR2 — 91 ClinVar variants

All ClinVar germline GABRR2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 73 flagged for review →

1 Conflicting · 4 Benign · 4 Likely benign · 82 Uncertain significance

Full GABRR2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 73

Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.

Predictors agree, ClinVar conflicts 1

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.

GABRR2 p.Arg433His Conflicting Single submitter

Predictors lean, ClinVar uncertain 58

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.

Predictors split 14

The independent predictors disagree with each other — read with care.

All GABRR2 variants

Conflicting classifications of pathogenicity 1

p.Arg433His Single submitter ⚠

Benign 4

p.Asp62= Single submitter
p.Gln352Arg Single submitter
p.Thr430Met Single submitter
p.Val330= Single submitter

Likely benign 4

p.Ala272= Single submitter
p.Arg287His Single submitter
p.Ser462= Single submitter
p.Thr305Ser Single submitter

Uncertain significance 82

c.-26C>A Single submitter
c.-50C>G Single submitter
c.-53G>T Single submitter
c.-59G>A Single submitter
c.-59G>T Single submitter
c.-71T>A Single submitter
p.Ala200Val Single submitter ⚠
p.Ala343Val Single submitter ⚠
p.Ala420Thr Single submitter ⚠
p.Ala440Val Single submitter ⚠
p.Ala71Ser Single submitter ⚠
p.Ala71Thr Single submitter ⚠
p.Arg105Gln Single submitter ⚠
p.Arg105Trp Single submitter ⚠
p.Arg128Gln Single submitter ⚠
p.Arg128Trp Single submitter ⚠
p.Arg250Cys Single submitter ⚠
p.Arg259His Single submitter ⚠
p.Arg27Gln Single submitter ⚠
p.Arg287Cys Single submitter
p.Arg293Thr Single submitter ⚠
p.Arg317Cys Single submitter
p.Arg357Gln Single submitter ⚠
p.Arg360Gly Single submitter ⚠
p.Arg433Cys Single submitter ⚠
p.Arg51Gln Single submitter ⚠
p.Arg51Trp Single submitter ⚠
p.Asn418Ser Single submitter ⚠
p.Asp65Asn Single submitter ⚠
p.Asp89Asn Single submitter ⚠
p.Cys13Arg Single submitter ⚠
p.Gln190Ter Single submitter
p.Gln57Arg Single submitter ⚠
p.His184Tyr Single submitter ⚠
p.Ile223Asn Single submitter ⚠
p.Ile253Val Single submitter ⚠
p.Ile298Ser Single submitter ⚠
p.Ile434Val Single submitter ⚠
p.Ile459Thr Single submitter ⚠
p.Ile50Thr Single submitter ⚠
p.Ile50Val Single submitter ⚠
p.Ile77Thr Single submitter ⚠
p.Ile8Thr Single submitter ⚠
p.Ile8Val Single submitter ⚠
p.Leu328Val Single submitter ⚠
p.Leu370Phe Single submitter ⚠
p.Leu45Phe Single submitter ⚠
p.Leu88Pro Single submitter ⚠
p.Lys24Glu Single submitter ⚠
p.Met157Thr Single submitter ⚠
p.Met315Ile Single submitter ⚠
p.Met366Val Single submitter ⚠
p.Met375Val Single submitter ⚠
p.Phe334Ile Single submitter ⚠
p.Phe336Leu Single submitter ⚠
p.Pro136Ala Single submitter ⚠
p.Pro316Leu Single submitter ⚠
p.Pro35Ser Single submitter ⚠
p.Pro75Ala Single submitter ⚠
p.Pro78Leu Single submitter ⚠
p.Ser189Phe Single submitter ⚠
p.Ser189Pro Single submitter ⚠
p.Ser338Leu Single submitter ⚠
p.Thr173Met Single submitter ⚠
p.Thr202Ile Single submitter ⚠
p.Thr256Met Single submitter ⚠
p.Thr256Ser Single submitter ⚠
p.Thr273Ile Single submitter ⚠
p.Thr300Met Single submitter ⚠
p.Thr305Ile Single submitter ⚠
p.Trp108Arg Single submitter ⚠
p.Trp134Arg Single submitter ⚠
p.Trp210Arg Single submitter ⚠
p.Trp247Ser Single submitter
p.Tyr41His Single submitter ⚠
p.Val160Leu Single submitter ⚠
p.Val166Met Single submitter ⚠
p.Val318Ile Single submitter ⚠
p.Val333Gly Single submitter ⚠
p.Val335Met Single submitter ⚠
p.Val351Met Single submitter ⚠
p.Thr219Ser No assertion criteria essential tremor ⚠